Van Regemorter-Pierquin-Vamos syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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37
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OrphanetNr:
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3419
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OMIM Id:
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000072)
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Hydroureter |
Frequent [Orphanet]
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146 / 7739
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2
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(HPO:0000054)
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Micropenis |
Frequent [Orphanet]
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257 / 7739
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3
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(HPO:0000047)
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Hypospadias |
Frequent [Orphanet]
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250 / 7739
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4
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(HPO:0000035)
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Abnormality of the testis |
Frequent [Orphanet]
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296 / 7739
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5
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(HPO:0008678)
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Renal hypoplasia/aplasia |
Frequent [Orphanet]
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127 / 7739
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6
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(HPO:0000494)
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Downslanted palpebral fissures |
Frequent [Orphanet]
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328 / 7739
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7
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(HPO:0000337)
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Broad forehead |
Very frequent [Orphanet]
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116 / 7739
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8
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
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117 / 7739
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9
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(HPO:0000464)
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Abnormality of the neck |
Frequent [Orphanet]
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31 / 7739
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10
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(HPO:0002714)
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Downturned corners of mouth |
Frequent [Orphanet]
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98 / 7739
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11
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(HPO:0000233)
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Thin vermilion border |
Very frequent [Orphanet]
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124 / 7739
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12
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(HPO:0002705)
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High, narrow palate |
Frequent [Orphanet]
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308 / 7739
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13
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(HPO:0002645)
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Wormian bones |
Frequent [Orphanet]
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65 / 7739
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14
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(HPO:0200102)
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Sparse or absent eyelashes |
Very frequent [Orphanet]
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64 / 7739
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15
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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16
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(HPO:0000160)
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Narrow mouth |
Frequent [Orphanet]
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188 / 7739
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17
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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18
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(HPO:0000271)
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Abnormality of the face |
Very frequent [Orphanet]
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108 / 7739
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19
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(HPO:0000322)
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Short philtrum |
Very frequent [Orphanet]
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130 / 7739
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20
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(HPO:0007021)
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Pain insensitivity |
Frequent [Orphanet]
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35 / 7739
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21
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(HPO:0006101)
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Finger syndactyly |
Frequent [Orphanet]
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198 / 7739
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22
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(HPO:0000772)
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Abnormality of the ribs |
Frequent [Orphanet]
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146 / 7739
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23
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(HPO:0009882)
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Short distal phalanx of finger |
Very frequent [Orphanet]
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125 / 7739
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24
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Frequent [Orphanet]
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288 / 7739
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25
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(HPO:0003312)
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Abnormal form of the vertebral bodies |
Frequent [Orphanet]
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172 / 7739
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26
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(HPO:0001561)
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Polyhydramnios |
Frequent [Orphanet]
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191 / 7739
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27
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(HPO:0001622)
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Premature birth |
Frequent [Orphanet]
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100 / 7739
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28
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(HPO:0001231)
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Abnormality of the fingernails |
Frequent [Orphanet]
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116 / 7739
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29
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(HPO:0001643)
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Patent ductus arteriosus |
Frequent [Orphanet]
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228 / 7739
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30
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(HPO:0010772)
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Anomalous pulmonary venous return |
Frequent [Orphanet]
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11 / 7739
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31
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(HPO:0004760)
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Congenital septal defect |
Frequent [Orphanet]
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69 / 7739
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32
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(HPO:0001626)
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Abnormality of the cardiovascular system |
Very frequent [Orphanet]
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73 / 7739
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33
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(HPO:0012252)
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Abnormal respiratory system morphology |
Very frequent [Orphanet]
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14 / 7739
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34
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(HPO:0001252)
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Muscular hypotonia |
Frequent [Orphanet]
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990 / 7739
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35
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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36
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(HPO:0012795)
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Abnormality of the optic disc |
Frequent [Orphanet]
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187 / 7739
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37
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(HPO:0000238)
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Hydrocephalus |
Frequent [Orphanet]
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278 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |